家族性局灶性癫痫伴可变灶1型一例并文献复习_Journal of Epilepsy

Authors：

衡娅婷 ¹ , 孙玉瑶 ¹ ,  杨欣伟 ²

1. ;
2. ;

Corresponding author：

杨欣伟, Email: 693647291@qq.com

Keywords：

家族性局灶性癫痫伴可变灶1型; DEPDC5; 癫痫; 拉考沙胺

DOI：

10.7507/2096-0247.202308005

Video：

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Citation： 衡娅婷, 孙玉瑶, 杨欣伟. 家族性局灶性癫痫伴可变灶1型一例并文献复习. Journal of Epilepsy, 2023, 9(6): 526-531. doi: 10.7507/2096-0247.202308005 Copy

1.	Aberastury M, Fernández R, Córdoba M, et al. DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family. Epileptic Disord, 2019, 21(1): 42-47.
2.	齐心畅, 陈加俊, 谭诚. 家族性局灶性癫痫伴可变灶1例报道. 中国实验诊断学, 2018, 22(4): 731-732.
3.	白钦钦, 罗浩铭, 艾戎. 一例家族性局灶性癫痫伴可变灶患儿的临床表型及基因变异分析. 山西医科大学学报, 2022, 53(3): 379-382.
4.	Gu C, Lu X, Ma J, et al. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report. BMC Pediatr, 2022, 22(1): 459.
5.	Zhang X, Huang Z, Liu J, et al. Phenotypic and genotypic characterization of depdc5-related familial focal epilepsy: case series and literature review. Front Neurol, 2021, 12: 641019.
6.	邓劼, 方方, 王晓慧, 等. GATOR1复合物基因变异致儿童局灶性癫痫的临床及遗传学特点分析. 中华儿科杂志, 2019, 57(10): 780-785.
7.	Perucca P, Bahlo M, Berkovic SF. The genetics of epilepsy. Annu Rev Genomics Hum Genet, 2020, 21: 205-230.
8.	Striano P, Zara F. Epilepsy: Common and rare epilepsies share genetic determinants. Nat Rev Neurol, 2017, 13(4): 200-201.
9.	Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol, 2018, 14(12): 735-745.
10.	Xiong L, Labuda M, Li DS, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet, 1999, 65(6): 1698-1710.
11.	Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet, 2013, 45(5): 552-555.
12.	Klein KM, O'Brien TJ, Praveen K, et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia, 2012, 53(8): e151-e155.
13.	Morales-Corraliza J, Gómez-Garre P, Sanz R, et al. Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Epilepsia, 2010, 51(9): 1910-1914.
14.	Weckhuysen S, Marsan E, Lambrecq V, et al. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia, 2016, 57(6): 994-1003.
15.	Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet, 2013, 45(5): 546-551.
16.	Bar-Peled L, Chantranupong L, Cherniack AD, et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science, 2013, 340(6136): 1100-1106.
17.	Bockaert J, Marin P. mTOR in brain physiology and pathologies. Physiol Rev, 2015, 95(4): 1157-1187.
18.	Myers KA, Scheffer IE. DEPDC5 as a potential therapeutic target for epilepsy. Expert Opin Ther Targets, 2017, 21(6): 591-600.
19.	Baldassari S, Picard F, Verbeek NE, et al. The landscape of epilepsy-related GATOR1 variants. Genet Med, 2019, 21(2): 398-408.
20.	Swaminathan A, Hassan-Abdi R, Renault S, et al. Non-canonical mTOR-independent role of DEPDC5 in regulating GABAergic network development. Curr Biol, 2018, 28(12): 1924-1937.
21.	Lee WS, Stephenson SEM, Howell KB, et al. Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Ann Clin Transl Neurol, 2019, 6(7): 1338-1344.
22.	Samanta D. DEPDC5-related epilepsy: a comprehensive review. Epilepsy Behav, 2022, 130: 108678.
23.	Ricos MG, Hodgson BL, Pippucci T, et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol, 2016, 79(1): 120-131.
24.	Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.
25.	McDaniel SS, Rensing NR, Thio LL, et al. The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway. Epilepsia, 2011, 52(3): e7-e11.
26.	刘文玮, 杨莹, 牛雪阳, 等. DEPDC5基因变异相关癫痫患儿基因型及表型特点. 中华儿科杂志, 2021, 59(10): 859-864.
27.	Samanta D. Changing landscape of dravet syndrome management: an overview. Neuropediatrics, 2020, 51(2): 135-145.
28.	Sanders MWCB, Lemmens CMC, Jansen FE, et al. Implications of genetic diagnostics in epilepsy surgery candidates: a single-center cohort study. Epilepsia Open, 2019, 4(4): 609-617.

1. Aberastury M, Fernández R, Córdoba M, et al. DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family. Epileptic Disord, 2019, 21(1): 42-47.
2. 齐心畅, 陈加俊, 谭诚. 家族性局灶性癫痫伴可变灶1例报道. 中国实验诊断学, 2018, 22(4): 731-732.
3. 白钦钦, 罗浩铭, 艾戎. 一例家族性局灶性癫痫伴可变灶患儿的临床表型及基因变异分析. 山西医科大学学报, 2022, 53(3): 379-382.
4. Gu C, Lu X, Ma J, et al. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report. BMC Pediatr, 2022, 22(1): 459.
5. Zhang X, Huang Z, Liu J, et al. Phenotypic and genotypic characterization of depdc5-related familial focal epilepsy: case series and literature review. Front Neurol, 2021, 12: 641019.
6. 邓劼, 方方, 王晓慧, 等. GATOR1复合物基因变异致儿童局灶性癫痫的临床及遗传学特点分析. 中华儿科杂志, 2019, 57(10): 780-785.
7. Perucca P, Bahlo M, Berkovic SF. The genetics of epilepsy. Annu Rev Genomics Hum Genet, 2020, 21: 205-230.
8. Striano P, Zara F. Epilepsy: Common and rare epilepsies share genetic determinants. Nat Rev Neurol, 2017, 13(4): 200-201.
9. Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol, 2018, 14(12): 735-745.
10. Xiong L, Labuda M, Li DS, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet, 1999, 65(6): 1698-1710.
11. Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet, 2013, 45(5): 552-555.
12. Klein KM, O'Brien TJ, Praveen K, et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia, 2012, 53(8): e151-e155.
13. Morales-Corraliza J, Gómez-Garre P, Sanz R, et al. Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Epilepsia, 2010, 51(9): 1910-1914.
14. Weckhuysen S, Marsan E, Lambrecq V, et al. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia, 2016, 57(6): 994-1003.
15. Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet, 2013, 45(5): 546-551.
16. Bar-Peled L, Chantranupong L, Cherniack AD, et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science, 2013, 340(6136): 1100-1106.
17. Bockaert J, Marin P. mTOR in brain physiology and pathologies. Physiol Rev, 2015, 95(4): 1157-1187.
18. Myers KA, Scheffer IE. DEPDC5 as a potential therapeutic target for epilepsy. Expert Opin Ther Targets, 2017, 21(6): 591-600.
19. Baldassari S, Picard F, Verbeek NE, et al. The landscape of epilepsy-related GATOR1 variants. Genet Med, 2019, 21(2): 398-408.
20. Swaminathan A, Hassan-Abdi R, Renault S, et al. Non-canonical mTOR-independent role of DEPDC5 in regulating GABAergic network development. Curr Biol, 2018, 28(12): 1924-1937.
21. Lee WS, Stephenson SEM, Howell KB, et al. Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Ann Clin Transl Neurol, 2019, 6(7): 1338-1344.
22. Samanta D. DEPDC5-related epilepsy: a comprehensive review. Epilepsy Behav, 2022, 130: 108678.
23. Ricos MG, Hodgson BL, Pippucci T, et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol, 2016, 79(1): 120-131.
24. Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.
25. McDaniel SS, Rensing NR, Thio LL, et al. The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway. Epilepsia, 2011, 52(3): e7-e11.
26. 刘文玮, 杨莹, 牛雪阳, 等. DEPDC5基因变异相关癫痫患儿基因型及表型特点. 中华儿科杂志, 2021, 59(10): 859-864.
27. Samanta D. Changing landscape of dravet syndrome management: an overview. Neuropediatrics, 2020, 51(2): 135-145.
28. Sanders MWCB, Lemmens CMC, Jansen FE, et al. Implications of genetic diagnostics in epilepsy surgery candidates: a single-center cohort study. Epilepsia Open, 2019, 4(4): 609-617.

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